Variant report

Variant	rs2069109
Chromosome Location	chr14:70395890-70395891
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70390089..70391707-chr14:70394877..70397493,2	MCF-7	breast:
2	chr14:70389062..70391123-chr14:70393251..70396818,3	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11848277	1.00[EUR][1000 genomes]
rs28456261	1.00[EUR][1000 genomes]
rs28468655	1.00[EUR][1000 genomes]
rs28767840	1.00[EUR][1000 genomes]
rs56290405	1.00[EUR][1000 genomes]
rs56723492	1.00[EUR][1000 genomes]
rs56837831	1.00[EUR][1000 genomes]
rs57139172	1.00[EUR][1000 genomes]
rs57292391	1.00[EUR][1000 genomes]
rs57709257	1.00[EUR][1000 genomes]
rs60048839	1.00[EUR][1000 genomes]
rs61059545	1.00[EUR][1000 genomes]
rs61226888	1.00[EUR][1000 genomes]
rs61253398	1.00[EUR][1000 genomes]
rs6573926	1.00[EUR][1000 genomes]
rs7148591	1.00[EUR][1000 genomes]
rs7150074	1.00[EUR][1000 genomes]
rs74060658	1.00[EUR][1000 genomes]
rs74060659	1.00[EUR][1000 genomes]
rs74060660	1.00[EUR][1000 genomes]
rs74060661	1.00[EUR][1000 genomes]
rs74060662	1.00[EUR][1000 genomes]
rs74060663	1.00[EUR][1000 genomes]
rs74060677	1.00[EUR][1000 genomes]
rs74060680	1.00[EUR][1000 genomes]
rs74061016	1.00[EUR][1000 genomes]
rs74061017	1.00[EUR][1000 genomes]
rs8022592	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70389000-70396800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr14:70391000-70397400	Weak transcription	Brain Substantia Nigra	brain
3	chr14:70392000-70396800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
4	chr14:70393000-70396000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:70393200-70398000	Weak transcription	Liver	Liver
6	chr14:70394400-70396000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:70394800-70398400	Weak transcription	Brain Germinal Matrix	brain
8	chr14:70394800-70398600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:70395000-70397000	Weak transcription	Brain Hippocampus Middle	brain
10	chr14:70395000-70398800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:70395000-70400800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:70395000-70402400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:70395200-70396600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:70395200-70396800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:70395200-70398600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:70395200-70400200	Weak transcription	HepG2	liver
17	chr14:70395200-70404200	Weak transcription	Spleen	Spleen
18	chr14:70395600-70396400	Strong transcription	Hela-S3	cervix
19	chr14:70395600-70396800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:70395600-70397200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:70395600-70404400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:70395800-70397000	Weak transcription	Placenta	Placenta

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